Literature DB >> 24237975

Abnormalities of the erythrocyte membrane.

Patrick G Gallagher1.   

Abstract

Primary abnormalities of the erythrocyte membrane are characterized by clinical, laboratory, and genetic heterogeneity. Among this group, hereditary spherocytosis patients are more likely to experience symptomatic anemia. Treatment of hereditary spherocytosis with splenectomy is curative in most patients. Growing recognition of the long-term risks of splenectomy has led to re-evaluation of the role of splenectomy. Management guidelines acknowledge these considerations and recommend discussion between health care providers, patient, and family. The hereditary elliptocytosis syndromes are the most common primary disorders of erythrocyte membrane proteins. However, most elliptocytosis patients are asymptomatic and do not require therapy.
Copyright © 2013 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Anemia; Erythrocyte membrane; Hereditary elliptocytosis; Hereditary pyropoikilocytosis; Hereditary spherocytosis; Splenectomy

Mesh:

Year:  2013        PMID: 24237975      PMCID: PMC4155395          DOI: 10.1016/j.pcl.2013.09.001

Source DB:  PubMed          Journal:  Pediatr Clin North Am        ISSN: 0031-3955            Impact factor:   3.278


  59 in total

Review 1.  Update on the clinical spectrum and genetics of red blood cell membrane disorders.

Authors:  Patrick G Gallagher
Journal:  Curr Hematol Rep       Date:  2004-03

2.  Structural and functional heterogeneity of alpha spectrin mutations involving the spectrin heterodimer self-association site: relationships to hematologic expression of homozygous hereditary elliptocytosis and hereditary pyropoikilocytosis.

Authors:  T Coetzer; J Palek; J Lawler; S C Liu; P Jarolim; M Lahav; J T Prchal; W Wang; B P Alter; G Schewitz
Journal:  Blood       Date:  1990-06-01       Impact factor: 22.113

3.  Epidemiological studies of spectrin mutations related to hereditary elliptocytosis and spectrin polymorphisms in Benin.

Authors:  C Glele-Kakai; M Garbarz; M C Lecomte; S Leborgne; C Galand; O Bournier; I Devaux; H Gautero; I Zohoun; P G Gallagher; B G Forget; D Dhermy
Journal:  Br J Haematol       Date:  1996-10       Impact factor: 6.998

4.  Red cell abnormalities in hereditary spherocytosis: relevance to diagnosis and understanding of the variable expression of clinical severity.

Authors:  T Cynober; N Mohandas; G Tchernia
Journal:  J Lab Clin Med       Date:  1996-09

5.  Six cases of hereditary spherocytosis revealed by human parvovirus infection.

Authors:  J J Lefrere; A M Courouce; R Girot; Y Bertrand; J P Soulier
Journal:  Br J Haematol       Date:  1986-04       Impact factor: 6.998

6.  Molecular determinants of clinical expression of hereditary elliptocytosis and pyropoikilocytosis.

Authors:  T Coetzer; J Lawler; J T Prchal; J Palek
Journal:  Blood       Date:  1987-09       Impact factor: 22.113

7.  Variable clinical severity of hereditary spherocytosis: relation to erythrocytic spectrin concentration, osmotic fragility, and autohemolysis.

Authors:  S W Eber; R Armbrust; W Schröter
Journal:  J Pediatr       Date:  1990-09       Impact factor: 4.406

8.  Inheritance pattern and clinical response to splenectomy as a reflection of erythrocyte spectrin deficiency in hereditary spherocytosis.

Authors:  P Agre; A Asimos; J F Casella; C McMillan
Journal:  N Engl J Med       Date:  1986-12-18       Impact factor: 91.245

9.  Deficiency of alpha-spectrin synthesis in burst-forming units-erythroid in lethal hereditary spherocytosis.

Authors:  C F Whitfield; J B Follweiler; L Lopresti-Morrow; B A Miller
Journal:  Blood       Date:  1991-12-01       Impact factor: 22.113

10.  Erythropoietin production and erythropoiesis in compensated and anaemic states of hereditary spherocytosis.

Authors:  R Guarnone; E Centenara; M Zappa; A Zanella; G Barosi
Journal:  Br J Haematol       Date:  1996-01       Impact factor: 6.998

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  26 in total

Review 1.  A pediatrician's practical guide to diagnosing and treating hereditary spherocytosis in neonates.

Authors:  Robert D Christensen; Hassan M Yaish; Patrick G Gallagher
Journal:  Pediatrics       Date:  2015-06       Impact factor: 7.124

2.  Red cell membrane disorders: structure meets function.

Authors:  Mary Risinger; Theodosia A Kalfa
Journal:  Blood       Date:  2020-09-10       Impact factor: 22.113

Review 3.  The Spectrinome: The Interactome of a Scaffold Protein Creating Nuclear and Cytoplasmic Connectivity and Function.

Authors:  Steven R Goodman; Daniel Johnson; Steven L Youngentob; David Kakhniashvili
Journal:  Exp Biol Med (Maywood)       Date:  2019-09-04

4.  Aberrant splicing contributes to severe α-spectrin-linked congenital hemolytic anemia.

Authors:  Patrick G Gallagher; Yelena Maksimova; Kimberly Lezon-Geyda; Peter E Newburger; Desiree Medeiros; Robin D Hanson; Jennifer Rothman; Sara Israels; Donna A Wall; Robert F Sidonio; Colin Sieff; L Kate Gowans; Nupur Mittal; Roland Rivera-Santiago; David W Speicher; Susan J Baserga; Vincent P Schulz
Journal:  J Clin Invest       Date:  2019-04-30       Impact factor: 14.808

5.  Clinical and laboratory outcomes following total or partial splenectomy in patients with hereditary spherocytosis.

Authors:  Serena I Tripodi; Robert C Shamberger; Matthew M Heeney; Venée N Tubman
Journal:  Pediatr Hematol Oncol       Date:  2019-07-26       Impact factor: 1.969

6.  Evaluating eosin-5-maleimide binding as a diagnostic test for hereditary spherocytosis in newborn infants.

Authors:  R D Christensen; A M Agarwal; R H Nussenzveig; N Heikal; M A Liew; H M Yaish
Journal:  J Perinatol       Date:  2014-11-06       Impact factor: 2.521

Review 7.  New insights on hereditary erythrocyte membrane defects.

Authors:  Immacolata Andolfo; Roberta Russo; Antonella Gambale; Achille Iolascon
Journal:  Haematologica       Date:  2016-10-18       Impact factor: 9.941

Review 8.  Laboratory Approach to Hemolytic Anemia.

Authors:  Manu Jamwal; Prashant Sharma; Reena Das
Journal:  Indian J Pediatr       Date:  2019-12-10       Impact factor: 1.967

9.  A novel essential splice site variant in SPTB in a large hereditary spherocytosis family.

Authors:  Taina T Nieminen; Sandya Liyanarachchi; Daniel F Comiskey; Yanqiang Wang; Wei Li; Isabella V Hendrickson; Pamela Brock; Albert de la Chapelle; Huiling He
Journal:  Mol Genet Genomic Med       Date:  2021-05-04       Impact factor: 2.183

10.  Haemolytic anemia triggered by SARS-CoV-2 in patient with hereditary spherocytosis.

Authors:  Paula María Barberá-Pérez; Irene Baquedano Lobera; Pedro José Paúl-Vidaller
Journal:  Med Clin (Barc)       Date:  2021-05-07       Impact factor: 1.725

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